ClinVar Miner

Submissions for variant NM_007123.5(USH2A):c.3435del (p.Val1147fs) (rs397518012)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000824790 SCV000065524 pathogenic Rare genetic deafness 2010-08-19 criteria provided, single submitter clinical testing The Val1147fs variant in USH2A has not been reported in the literature nor previ ously identified by our laboratory. The Val1147fs variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 1147 and leads to a premature stop codon 6 codons downstream. This alteration is then predicted to lead to a truncated or absent protein. In summary, this varia nt meets our criteria to be classified as pathogenic.
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000041828 SCV000863932 pathogenic Usher syndrome, type 2A 2018-09-03 no assertion criteria provided clinical testing

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